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  3. HARS
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Hereditary neuropathy or pain disorder

Gene: HARS

Green List (high evidence)
HARS (histidyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000170445
EnsemblGeneIds (GRCh37): ENSG00000170445
OMIM: 142810, Gene2Phenotype
HARS is in 9 panels

6 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Added new-gene-name tag, new approved HGNC gene symbol for HARS is HARS1
Created: 6 Sep 2019, 2:47 p.m. | Last Modified: 6 Sep 2019, 2:47 p.m.
Panel Version: 1.333
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.
Created: 29 Apr 2019, 9:26 a.m.

Panel version: Imported from Hereditary neuropathy panel version 1.333

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 29 Apr 2019, 9:20 a.m.

Panel version: Imported from Hereditary neuropathy panel version 1.52

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Monoallelic for Charcot-Marie-Tooth disease, axonal, type 2W (Biallelic for Usher syndrome type 3B).
Created: 4 May 2016, 11:40 a.m.
Comment on list classification: Promoted from red to green due to agreement from 3 reviewers.
Created: 4 May 2016, 11:39 a.m.
Created: 4 May 2016, 11:39 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0.77

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2W, OMIM:616625
Tags
new-gene-name
OMIM
142810
Clinvar variants
Variants in HARS
Penetrance
None
Panels with this gene

History Filter Activity

9 Mar 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: HARS were changed from Charcot-Marie-Tooth disease, axonal, type 2W, OMIM: 616625 to Charcot-Marie-Tooth disease, axonal, type 2W, OMIM:616625

9 Mar 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: HARS were changed from to Charcot-Marie-Tooth disease, axonal, type 2W, OMIM: 616625

18 Dec 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: HARS.

5 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: HARS was added gene: HARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: HARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted